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ID	DOID:0060993
PURL	http://purl.obolibrary.org/obo/DOID_0060993 Copy Copied!
Name	bent bone dysplasia syndrome 2
Definition	A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/33242826/
Xrefs	MIM:620076
Parent Relationships	is_a bone remodeling disease is_a autosomal recessive disease